Hasil Pencarian - Albandary Albakheet

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  1. 1
    Detailed genetic and clinical analysis of a novel de novo variant in HPRT1: Case report of a female patient from Saudi Arabia with Lesch–Nyhan syndrome

    Detailed genetic and clinical analysis of a novel de novo variant in HPRT1: Case report of a female patient from Saudi Arabia with Lesch–Nyhan syndrome oleh Albandary AlBakheet, Hanan AlQudairy, Joud Alkhalifah, Sheikhah Almoaily, Namik Kaya, Zuhair Rahbeeni

    Diterbitkan 2023-01-01
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  2. 2
    Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15)

    Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15) oleh Mohammed Z. Seidahmed, Muddathir H. Hamad, Albandary AlBakheet, Salah A. Elmalik, Abdulmajeed AlDrees, Jumanah Al-Sufayan, Ibrahim Alorainy, Ibrahim M. Ghozzi, Dilek Colak, Mustafa A. Salih, Namik Kaya

    Diterbitkan 2020-05-01
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  3. 3
    Age-specific gene expression signatures for breast tumors and cross-species conserved potential cancer progression markers in young women.

    Age-specific gene expression signatures for breast tumors and cross-species conserved potential cancer progression markers in young women. oleh Dilek Colak, Asmaa Nofal, Albandary Albakheet, Maimoona Nirmal, Hatim Jeprel, Abdelmoneim Eldali, Taher Al-Tweigeri, Asma Tulbah, Dahish Ajarim, Osama Al Malik, Mehmet S Inan, Namik Kaya, Ben H Park, Suad M Bin Amer

    Diterbitkan 2013-01-01
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  4. 4
    SLC25A42‐associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion

    SLC25A42‐associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion oleh Mazhor Aldosary, Shahad Baselm, Maha Abdulrahim, Rawan Almass, Maysoon Alsagob, Zainab AlMasseri, Rozeena Huma, Laila AlQuait, Tarfa Al‐Shidi, Eman Al‐Obeid, Albandary AlBakheet, Basma Alahideb, Lujane Alahaidib, Alya Qari, Robert W. Taylor, Dilek Colak, Moeenaldeen D. AlSayed, Namik Kaya

    Diterbitkan 2021-07-01
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  5. 5
    A novel missense mutation in ISCA2 causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4

    A novel missense mutation in ISCA2 causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4 oleh Zuhair Al-Hassnan, Zuhair Al-Hassnan, Mazhor AlDosary, Aljouhra AlHargan, Hanan AlQudairy, Rawan Almass, Khaled Omar Alahmadi, Saif AlShahrani, Albandary AlBakheet, Mohammad A. Almuhaizea, Mohammad A. Almuhaizea, Robert W. Taylor, Robert W. Taylor, Dilek Colak, Namik Kaya, Namik Kaya

    Diterbitkan 2024-10-01
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  6. 6
    Identification of novel genomic imbalances in Saudi patients with congenital heart disease

    Identification of novel genomic imbalances in Saudi patients with congenital heart disease oleh Zuhair N. Al-Hassnan, Waad Albawardi, Faten Almutairi, Rawan AlMass, Albandary AlBakheet, Osama M. Mustafa, Laila AlQuait, Zarghuna M. A. Shinwari, Salma Wakil, Mustafa A. Salih, Majid Al-Fayyadh, Saeed M. Hassan, Mansour Aljoufan, Osima Al-Nakhli, Brynn Levy, Balsam AlMaarik, Hana A. Al-Hakami, Maysoon Alsagob, Dilek Colak, Namik Kaya

    Diterbitkan 2018-01-01
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  7. 7
    Clinical, radiological, and genetic characterization of SLC13A5 variants in Saudi families: Genotype phenotype correlation and brief review of the literature

    Clinical, radiological, and genetic characterization of SLC13A5 variants in Saudi families: Genotype phenotype correlation and brief review of the literature oleh Hanan AlQudairy, Hesham AlDhalaan, Sarah AlRuways, Sarah AlRuways, Nouf AlMutairi, Nouf AlMutairi, Maha AlNakiyah, Maha AlNakiyah, Reema AlGhofaili, Reema AlGhofaili, Albandary AlBakheet, Adeeb Alomrani, Omar A. Alharbi, Ehab Tous, Moeen AlSayed, Hamad AlZaidan, Maha M. AlRasheed, Maha M. AlRasheed, Ali AlOdaib, Namik Kaya

    Diterbitkan 2023-02-01
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